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TMEM229B

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TMEM229B
Identifiers
AliasesTMEM229B, C14orf83, transmembrane protein 229B
External IDsMGI: 2444389; HomoloGene: 18700; GeneCards: TMEM229B; OMA:TMEM229B - orthologs
Orthologs
SpeciesHumanMouse
Entrez

161145

268567

Ensembl

ENSG00000198133

ENSMUSG00000046157

UniProt

Q8NBD8

Q8BFQ2

RefSeq (mRNA)

NM_182526

NM_001170401
NM_178745
NM_001364891
NM_001364892

RefSeq (protein)

NP_001163872
NP_848860
NP_001351820
NP_001351821

Location (UCSC)n/aChr 12: 79.01 – 79.05 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Transmembrane protein 229b is a protein that in humans is encoded by the TMEM229b gene.[4]

Nomenclature

The TMEM229B gene is also known as C14orf83, FLJ33387, Q8NBD8, Hs.509707, Hs.712258, IPR010540, and CN083_HUMAN.[5][6][7]

Gene

The TMEM229B gene is located on the sense strand (-) of chromosome 14 at location 14q24.1 and spans the chromosomal locus 67,936,983—67,982,021.[8] Covering a total of 45,038 base pairs (bp) along the chromosome, the TMEM229B gene has a total of 3 exons in its primary unspliced transcript mRNA of 4,068 bp. There are a total of 7 transcript variants for TMEM229B ranging in mRNA size from 519 bp to 5008 bp.[9] The TMEM229B gene is flanked by phosphatidylinotisol glycan anchor class H (PIGH), a protein associated with the endoplasmic reticulum specifically GPI-anchor biosynthesis, and PLEK2 on its left.[10][11] See Figure 1.0. The gene is highly conserved in vertebrates, including portions of the approximately 3,000 base pairs of 3'UTR.[12]

Tissue distribution

Expressed sequence tag mapping of TMEM229B gene expression indicates that it is ubiquitously expressed throughout the body. TMEM229B is more heavily expressed in the parathyroid, skin, and thyroid tissues, and moderately expressed in bone marrow, trachea, spleen, eye, brain, pancreas, mammary gland, intestine, liver, thymus, lymph node, ovarian, muscle, lung, blood, and kidney tissues.[13]

Protein

The translated TMEM229B protein is a total of 167 amino acids long, with a predicted molecular weight of 19,531 Daltons.[14] The TMEM229B protein contains a domain of unknown function, part of the domain family DUF1113, spanning from amino acids 87 to 135.[15]

Based on predicted structure TMEM229b is highly resemblant of a connexin subunit.[16] A highly conserved phosphorylation site exists at the Threonine-139 position.[17] See multiple sequence alignment below.

  • Annotated diagram of the TMEM229b gene (with its 3 exons), mature mRNA and protein domains. Functional peptide is predicted to take the form of a connexin 4-pass transmembrane subunit (seen below).
    Annotated diagram of the TMEM229b gene (with its 3 exons), mature mRNA and protein domains. Functional peptide is predicted to take the form of a connexin 4-pass transmembrane subunit (seen below).

Clinical relevance

Expression of the TMEM229B gene increases in several disease states including amelanotic skin melanoma, B-cell neoplasm, breast carcinoma, Burkitt's lymphoma, colorectal adenocarcinoma, carcinoma, cutaneous T cell lymphoma, esophageal carcinoma, gastric carcinoma, glioblastoma, liver carcinoma, lymphoma, melanoma, small cell lung carcinoma, T-cell acute lymphoblastic leukemia, thyroid carcinoma and Wilms' tumor as found in several microarray experiments.[16] Over-expression of the TMEM229B gene has not been linked as a causal factor in any of these disease states.

References

  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046157 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "TMEM229B Gene - GeneCards | T229B Protein T229B Antibody". GeneCards V3 - Human Genes | Gene Database. Retrieved 2011-04-19.
  5. ^ "Homo sapiens transmembrane protein 229B (TMEM229B), mRNA". National Center for Biotechnology Information. U.S. National Library of Medicine. Retrieved 2011-04-19.
  6. ^ "Gene & Protein Summary: TMEM229B". European Bioinformatics Institute. European Molecular Biology Laboratory. Archived from the original on 2012-12-23. Retrieved 2011-04-19.
  7. ^ "Human Gene TMEM229B (uc001xjk.2) Description and Page Index". UCSC Genome Browser. Retrieved 2011-04-19.
  8. ^ "Gene: TMEM229B (ENSG00000198133)". The Ensembl Project. European Bioinformatics Institute, European Molecular Biology Laboratory, and Wellcome Trust Sanger Institute. Retrieved 2011-04-19.
  9. ^ "AceView synopsis of TMEM229B". AceView. Retrieved 24 April 2011.
  10. ^ "Genecards". The Human Gene Compendium. Weizmann Institute of Science with Xennex Inc. Retrieved 24 April 2011.
  11. ^ "Chromosomal region of TMEM229B". EMBL-EBI. Retrieved 24 April 2011.
  12. ^ "NCBI Nuceleotide BLAST". Basic Local Alignment Search.
  13. ^ "EST profile: TMEM229B". UniGene. National Library of Medicine. Retrieved 24 April 2011.
  14. ^ "Q8NBD8 (T229B_HUMAN)". UniProtKB. EMBL-EBI. Retrieved 2011-04-21.
  15. ^ "transmembrane protein 229B [Homo sapiens]". National Center for Biotechnology Information. U.S. National Library of Medicine. Retrieved 2011-04-19.
  16. ^ a b "Transcription profiling of TMEM229B". EMBL-EBI. European Molecular Biology Laboratory and European Bioinformatics Institute. Retrieved 24 April 2011.
  17. ^ "Kinase specific Phosphorylation prediction tool".
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